N140S (p.Asn140Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
N140S (p.Asn140Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Epidermolysis bullosa simplex 1C, localized. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
N140S (p.Asn140Ser) variant details
- p.Asn140Ser
- rs267607397
- ClinGen CA216954
- NCI-TCGA Cosmic COSV9939
- ClinVar RCV000056736
- Likely pathogenic
- Epidermolysis bullosa simplex 1C, localized
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.96
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Epidermolysis bullosa simplex 1C, localized)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available